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Gender effect on the genotype-phenotype correlation in congenital long QT syndrome

In long QT syndrome (LQTS), female shows a higher risk of a cardiac event compared with a male in previous studies. However, the real nature about the difference between male and female is still lacking. In this investigation, we sought to comprehensively compare the genotype-phenotype correlation between sexes in genotyped LQTS patients. We enrolled 603 congenital LQTS cases from 6 registered centers (65.8% females; 72.9% probands; average ages at diagnosis, 21.8±17.8 y/o). Participants provided written informed consent, and clinical characteristics were recorded. All patients underwent at least LQT1-3 gene screening. Seventeen reported LQTS and other inherited arrhythmia candidate genes were sequenced with next-generation sequencing (NGS) in 306 (51%) cases. Major cardiac events (MCE) were defined as (aborted) sudden cardiac death, and/or documented malignant arrhythmias. Cardiac symptom includes syncope and MCE.

Author(s): Hector Barajas-Martinez

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